Conditions / Genetic

retinitis pigmentosa 12

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3.

Signs and symptoms

  • Undetectable electroretinogram
  • Nystagmus
  • Reduced visual acuity
  • Rod-cone dystrophy
  • Attenuation of retinal blood vessels
  • Spicular pigmentation of the retina
  • Optic disc pallor
  • High hypermetropia
  • Nyctalopia
  • Exotropia

Also known as: RP12